Sarah M. Lambert, MD
Pasquale Casale, MD, FACS
Paul H. Noh, MD, FACS, FAAP
BASICS
DESCRIPTION
• Congenital anomaly characterized by a dorsal opening of the urethra, resulting in dorsal chordee and widely displaced corporeal bodies.
• Often associated with the so-called “exstrophy–epispadias complex” a wide spectrum of abnormalities that can include classic bladder exstrophy, epispadias, and cloacal exstrophy.
– Each of these anomalies is considered to arise from the same basic embryologic defect.
EPIDEMIOLOGY
Incidence
• 1 in 117,000 newborn males (1)[A]
• 1 in 484,000 newborn females (1)[A]
• Male > Female (3:1–5:1) (1)[A]
Prevalence
N/A
RISK FACTORS
None identified
Genetics
None sporadic
PATHOPHYSIOLOGY
• On the same spectrum of exstrophy
• Failure of medial migration of mesenchyme between the ectodermal and endodermal layers of the cloacal membrane due to premature rupture of the cloacal membrane
• The mesenchyme that forms the genital tubercles at the 5th wk of gestation fails to migrate completely toward the midline, resulting in a defect in the dorsal urethral wall
ASSOCIATED CONDITIONS
• Exstrophy
• Urinary incontinence
• VUR: Incidence of 30–75% (1)
• Inguinal hernias: Incidence of 33% (1)
• 2.8% concomitant renal anomalies, duplicated collecting system most common
• Concomitant colorectal anomalies with 1.8% (exstrophy/epispadias), imperforate anus most common
GENERAL PREVENTION
N/A
DIAGNOSIS
HISTORY
• Usually recognized at birth
• Less severe forms, especially in females, may go unrecognized until the child experiences persistent urinary incontinence after toilet-training or UTIs
• Urinary incontinence due to open bladder outlet and absence of urinary sphincter. The more proximal the urethral meatus, the greater the degree of incontinence
• There may be a family history of exstrophy–epispadias, although rare
PHYSICAL EXAM
• Males:
– Displaced meatus, ranging from glans to penile shaft to peno-pubic region to subsymphyseal location
– Open urethral plate visible on dorsum of phallus
– Divergent peno-pubic attachments due to public diastasis, resulting in splaying of corpora cavernosa and a short, pendular penis with dorsal chordee, similar to that seen in exstrophy
– Ventral hood of foreskin
– Assess position of testes
• Females:
– 3 degrees of female epispadias, according to Davis (1)
I: Urethral orifice appears patulous
II: Urethra split dorsally along most of urethra
III: Urethra open dorsally along its entire length into the bladder neck, rendering patient incontinent. Most common female type
– Bifid clitoris
– Mons pubis depressed and covered in glabrous skin
– Labia minora poorly developed and terminated anteriorly at clitoris
– Vagina and internal genitalia usually normal
• Other:
– Should assess for any degree of bladder prolapse or exstrophy
– Low-set umbilicus with exstrophy
– Public diastasis due to outward rotation of innominate bones, usually not as wide as in exstrophy–epispadias complex
– Evaluate for inguinal hernias
DIAGNOSTIC TESTS & INTERPRETATION
Lab
CBC, renal profile
Imaging
• Plain x-ray to assess orientation of pelvic bones; osteotomies should be done if pubic diastasis is >4 cm.
• Renal/bladder US to assess presence/absence of 2 kidneys and presence/absence of hydronephrosis, due to increased risk of renal agenesis, ectopic renal location, and VUR.
• Voiding cystourethrogram to assess bladder capacity, bladder outlet, presence/absence of VUR.
Diagnostic Procedures/Surgery
Cystourethroscopy to assess length of urethra, presence/competency of sphincter, bladder capacity/quality, location/quality of ureteral orifices.
Pathologic Findings
• N/A
DIFFERENTIAL DIAGNOSIS
• Varying degree of epispadias
• Classic bladder exstrophy
TREATMENT
GENERAL MEASURES
• Usually managed along with bladder exstrophy, which is commonly present.
• Complete continence may not be achieved for months to years after initial surgery.
• In males, continence may not occur until puberty with maturation of prostate.
MEDICATION
First Line
Anticholinergic therapy may help with bladder development and modeling to promote increased capacity with good compliance once surgery has increased outlet resistance.
Second Line
N/A
SURGERY/OTHER PROCEDURES
• Goals:
– Protection of upper tracts, including correction of VUR and maintenance of a low-pressure system
– Achieve urinary continence
– Reconstruction of external genitalia for optimal functional and cosmetic results
• 1st stage:
– Bladder closure between 3 to 6 mo of age. Patient is left with an epispadias
– Can also be done as a single stage with bladder closure and urethral reconstruction known as the “Complete Primary Repair of Exstrophy.” Higher incidence of glanular loss than staged repair
– Osteotomies are needed if the pubic diastasis is 4 cm or greater on plain x-ray. It was once thought that if the surgery was done in the 1st 48 hr of life that osteotomies are not needed. Current management favors osteotomies to maximize continence
– Patients need to be immobilized after surgery to allow pelvic bone healing if osteotomies are needed
• 2nd stage:
– Typically performed 6 mo to a year after 1st stage
• Males:
– Administer testosterone stimulation preoperatively if penile length not adequate.
– At 6 to 12 mo of age, perform modified Cantwell–Ransley epispadias repair, involving tubularization of intact urethral plate with reverse meatal advancement and transposition of urethra ventral to corpora cavernosa
– Also must correct dorsal chordee by division of suspensory ligaments, freeing attachments from undersurface of inferior public ramus, and medially rotating the corpora cavernosa, and occasionally performing cavernostomy
• Females:
– At 12–18 mo of age, perform genitoplasty and urethroplasty
– Edges of urethra approximated for tubularization
– Clitoris and labia minora reapproximated
– Mons may be reconfigured
• 3rd stage:
– Most commonly, Young–Dees–Leadbetter bladder neck reconstruction affords best chance at continence
– Often, ureters must be reimplanted at same time due to proximity to bladder neck or VUR. Cohen technique usually preferred
ADDITIONAL TREATMENT
Further surgery may be necessary to correct complications of initial surgery or to achieve improved cosmesis or complete continence.
Additional Therapies
N/A
Complementary & Alternative Therapies
Psychological: If signs of self-esteem or sexual dysfunction arise, psychological therapy plays a crucial role and should be implemented early on in diagnosis of emotional issues.
ONGOING CARE
PROGNOSIS
• Continence rates after bladder neck reconstruction range from 70% to 87% (2 – 5).
• Satisfactory cosmesis after penile reconstruction ranges from 55% to 84% (6,7).
• Erectile function is almost universally preserved.
• The ability to participate in satisfactory intercourse and to have children is difficult to assess, as this requires long-term follow-up. Most reports seem to indicate the majority of patients can have intercourse and many males have even fathered children.
COMPLICATIONS
• The most common is fistula formation, with an incidence of 4–40% after urethroplasty in males, although many of these will close spontaneously (2,4,7).
• Other less common complications are stricture, meatal stenosis, wound infection, diverticulum, and ureteral obstruction.
• If there is tension on the closure, dehiscence is a major complication that might result.
FOLLOW-UP
Patient Monitoring
• After epispadias repair:
– Remove urethral catheter 1–2 wk after surgery
– Regular cystoscopy to assess urethra and bladder capacity
– Regular upper tract monitoring with renal/bladder US to ensure healthy upper tracts.
• After bladder neck repair:
– Initiate suprapubic tube capping trials a few weeks after surgery
– Can remove SP tube once PVRS are minimal
– Continuation of prophylactic antibiotics until resolution of VUR confirmed and child voiding well
– Regular upper tract monitoring with US
– Urodynamics may be necessary with cystometrogram and urethral pressure profilometry in cases of persistent incontinence or infection
Patient Resources
• PubMed Health. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002264/
REFERENCES
1. Gearhart JP, Mathews R. Exstrophy-epispadias complex. In: Wein AJ, Kavoussi LR, Partin AW, et al. eds. Campbell-Walsh Urology. 10th ed. Philadelphia, PA: Saunders Elsevier; 2012:3497–3553.
2. Kramer SA, Kelalis PP. Assessment of urinary continence in epispadias: Review of 94 patients. J Urol. 1982;128:290–293.
3. Arap S, Nahas WC, Giron AM, et al. Incontinent epispadias: Surgical treatment of 38 cases. J Urol. 1988;140:577–581.
4. Ben-Chaim J, Peppas DS, Jeffs RD, et al. Complete male epispadias: Genital reconstruction and achieving continence. J Urol. 1995;153:1665–1667.
5. Gearhart JP, Peppas DS, Jeffs RD. Complete genitourinary reconstruction in female epispadias. J Urol. 1993;149:1110–1113.
6. Mesrobian HJ, Kelalis PP, Kramer SA. Long-term followup of cosmetic appearance and genital function in boys with exstrophy: Review of 53 patients. J Urol. 1986;136:256–258.
7. Kajbafzadeh AM, Duffy PG, Ransley PG. The evolution of penile reconstruction in epispadias repair: A report of 180 cases. J Urol. 1995;154:858–861.
ADDITIONAL READING
• Hankinson JC, Eldridge MA, Ostrander R, et al. Emotional and behavioral functioning in children with bladder exstrophy-epispadias complex: A developmental perspective. J Pediatr Urol. 2013;S1477–5131(13):192–197.
• Lloyd JC, Wiener JS, Gargollo PC, et al. Contemporary epidemiological trends in complex congenital genitourinary anomalies. J Urol. 2013;190(suppl 4):1590–1595.
• Stec AA, Baradaran N, Gearhart JP. Congenital renal anomalies in patients with classic bladder exstrophy. Urology. 2012;79(1):207–209.
• Stec Stec, Baradaran N, Tran C, et al. Colorectal anomalies in patients with classic bladder exstrophy. J Pediatr Surg. 2011;46(9):1790–1793.
• Suson KD, Preece J, Baradaran N, et al. The fate of the complete female epispadias and exstrophy bladder - Is there a difference? J Urol. 2013;190(suppl 4):1583–1588.
See Also (Topic, Algorithm, Media)
• Epispadias Image 
• Exstrophy, Bladder (Classic Exstrophy)
• Exstrophy, Cloacal
• Exstrophy–Epispadias Complex
CODES
ICD9
• 752.62 Epispadias
• 753.5 Exstrophy of urinary bladder
• 753.8 Other specified anomalies of bladder and urethra
ICD10
• Q64.0 Epispadias
• Q64.10 Exstrophy of urinary bladder, unspecified
CLINICAL/SURGICAL PEARLS
• Female epispadias is not well recognized. It often presents after birth because of complaints of incontinence.
• Antenatal ultrasonography may be suggestive of exstrophy–epispadias complex: Findings of abnormal genitalia, low set umbilical cord, inability to identify bladder on ultrasound.